Test ID: F822B    
Hemophilia A F8 Gene, Intron 22 Inversion Known Mutation, Whole Blood

First-tier molecular testing for males affected with severe hemophilia A, when a familial intron 22 inversion has been previously identified.

Determining hemophilia A carrier status for at-risk females, ie, individuals with a family history of severe hemophilia A due to F8 intron 22 inversion

Detects the intron 22 inversion within the F8 gene. The intron 22 inversion mutation accounts for approximately 45% of mutations associated with severe hemophilia A.

Intron 22 inversion known mutation analysis can only be performed for individuals when an intron 22 inversion has already been identified in the family. If a mutation has not already been identified in the family, order F8INV / Hemophilia A F8 Gene, Intron 1 and 22 Inversion Mutation Analysis, Whole Blood.

Maternal cell contamination testing will be performed for all cord blood specimens. A maternal whole blood sample is required to perform this test.

The following algorithms are available in Special Instructions:

-Hemophilia Carrier Testing Algorithm

-Hemophilia Testing Algorithm

• Informed Consent for Genetic Testing
• Hemophilia Carrier Testing Algorithm
• Hemophilia Testing Algorithm
• Hemophilia A Patient Information
• Informed Consent for Genetic Testing (Spanish)

Inverse Shifting-Polymerase Chain Reaction (IS-PCR)